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Deafness-epiphyseal dysplasia-short stature syndrome

Disease definition

A rare syndromic genetic deafness characterized by profound congenital bilateral sensorineural deafness, developmental delay, moderate intellectual disability, generalized delay in bone maturation, short stature, epiphyseal dysplasia particularly of the capital femoral epiphyses, and mild dysmorphic facial features such as prominent forehead and small, pointed chin. Bilateral obstruction of lacrimal ducts and inguinal and umbilical hernias have also been described.


Classification level: Disorder
  • Synonym(s):
    • Chitty-Hall-Baraitser syndrome
    • Hearing loss-epiphyseal dysplasia-short stature syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: -
  • OMIM: 601351
  • UMLS: C1832438
  • MeSH: -
  • GARD: 1688
  • MedDRA: -
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